Recombinant full-length human PHKG2 was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag.
Catalog No. P20-10G
Catalog No. | Pack Size | Price (USD) | |
---|---|---|---|
P20-10G-05 | 5 ug | $226 | |
P20-10G-10 | 10 ug | $325 | |
P20-10G-BULK | BULK | Contact Us |
Overview:
PHKG2 is the hepatic and testis isoform of the gamma subunit of phosphorylase kinase. PHKG2 gene contains 10 exons and spans 9.5 kb and maps to chromosome 16p12.1-p11.2 (1). Deficiency of PHK, a regulatory enzyme of glycogen metabolism, is responsible for 25% of all cases of glycogen storage disease and is genetically and clinically heterogeneous. Mutations in the PHKG2 gene lead to autosomal liver-specific PHK deficiency (glycogen storage disease IXc) and an increased risk of cirrhosis and at least 11 PHKG2 mutations have been identified to date (2).
Gene Aliases:
GSD9C
Genbank Number:
References:
1. Burwinkel B, et al: Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum. Molec. Genet. 7: 149-154, 1998.
2. Maichele A J, et al: Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nature Genet. 14: 337-340, 1996
Specific Activity:
Sample Kinase Activity Plot. For specific information on a given lot, see related technical data sheet.
Purity:
Sample Purity Data. For specific information on a given lot, see related technical data sheet.
Storage, Stability and Shipping:
Store product at –70oC. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.
Molecular Weight:
~70 kDa
There are no related publications available for this product.
Metabolic Disorder, Ser/Thr Kinases
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